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唐氏综合征患者的 KIF21A mRNA 表达。

KIF21A mRNA expression in patients with Down syndrome.

机构信息

Laboratory of Cytogenetics, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.

出版信息

Neurol Sci. 2013 Apr;34(4):569-71. doi: 10.1007/s10072-012-1183-x. Epub 2012 Sep 12.

Abstract

Down syndrome (DS) is a chromosomal disorder caused by chromosome 21 trisomy and is the most frequent genetic cause of intellectual disability. The gene for the kinesin family member 21A (KIF21A), is a member of the kinesin superfamily involved in the anterograde fast axonal transport. In this study, we have evaluated the possible differential expression of KIF21A mRNA, by qRT-PCR, in peripheral blood leukocytes of DS subjects and it compared with the normal population. In the assumption that changes in KIF21A gene expression levels may affect the axonal transport and the development of the nervous system of subjects with DS. In the present case-control study, KIF21A gene expression was increased in 72.72 % of DS samples compared with normal subjects. This finding suggests that changes in the expression levels of KIF21A in DS subjects may affect the axonal transport and the development of the nervous system.

摘要

唐氏综合征(DS)是一种由 21 三体引起的染色体疾病,是智力障碍最常见的遗传原因。驱动蛋白家族成员 21A(KIF21A)基因是驱动蛋白超家族的成员,参与顺行快速轴突运输。在这项研究中,我们通过 qRT-PCR 评估了 KIF21A mRNA 在 DS 受试者外周血白细胞中的差异表达,并与正常人群进行了比较。假设 KIF21A 基因表达水平的变化可能会影响 DS 受试者的轴突运输和神经系统发育。在本病例对照研究中,与正常受试者相比,72.72%的 DS 样本中 KIF21A 基因表达增加。这一发现表明,DS 受试者中 KIF21A 表达水平的变化可能会影响轴突运输和神经系统的发育。

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